Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nathalie Rabasse"'
Autor:
Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellula
Externí odkaz:
https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196
Autor:
Nathalie Rabasse, Catherine Fossoud, Nadia Bahi-Buisson, Miranda S. C. Wilson, Elsa Lorino, Celine Banal, Meral Topçu, Gaele Pitelet, Eric Bieth, Christine Bole-Feysot, Nami Altin, Vincent Cantagrel, Arnold Munnich, Marie-Therese Vasilache-Dangles, Fabienne Giuliano, Lydie Burglen, Adolfo Saiardi, Valentina Stanley, Nathalie Lefort, Giulia Barcia, Pierre David, Karthyayani Rajamani, Daniel Medina-Cano, Patrick Nitschke, Joseph G. Gleeson, Maha S. Zaki, Laurence Colleaux, Nathalie Boddaert, Fatma Mujgan Sonmez, Damir Musaev, Ekin Ucuncu
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994f5bedba8a3147a651f53532ee7c82
https://doi.org/10.1038/s41467-020-19919-y
https://doi.org/10.1038/s41467-020-19919-y
Autor:
Arnold Munnich, Catherine Fossoud, Nathalie Lefort, Meral Topçu, Patrick Nitschke, Pierre David, Karthyayani Rajamani, Joseph G. Gleeson, Christine Bole-Feysot, Marie-Therese Vasilache-Dangles, Valentina Stanley, Nadia Bahi-Buisson, Miranda S. C. Wilson, Laurence Colleaux, Elsa Lorino, Nathalie Rabasse, Lydie Burglen, Gaele Pitelet, Adolfo Saiardi, Maha S. Zaki, Nami Altin, Fabienne Giuliano, Vincent Cantagrel, Giulia Barcia, Eric Bieth, Daniel Medina-Cano, Fatma Mujgan Sonmez, Damir Musaev, Nathalie Boddaert, Ekin Ucuncu
Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d7f41b388c8d3b67a980227eeb5a8a0
https://doi.org/10.1101/2020.05.17.100248
https://doi.org/10.1101/2020.05.17.100248
